Canonical Allele Identifier: CA275781
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204146
ClinVar RCV Id: RCV000186353
dbSNP Id: rs180177160

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878718T>C , CM000664.2:g.240878718T>C GRCh38
NC_000002.11:g.241818135T>C , CM000664.1:g.241818135T>C GRCh37
NC_000002.10:g.241466808T>C NCBI36
NG_008005.1:g.14974T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1076T>C MANE Select ENSP00000302620.3:p.Leu359Pro
ENST00000307503.3:c.1076T>C ENSP00000302620.3:p.Leu359Pro
ENST00000470255.1:n.854T>C
NM_000030.2:c.1076T>C NP_000021.1:p.Leu359Pro
NM_000030.3:c.1076T>C MANE Select NP_000021.1:p.Leu359Pro